Age-related macular degeneration (AMD) has been associated with a new gene, according to an article released on October 7, 2008 in The Lancet.

Macular degeneration is characterized by visual impairment due to damage to the retina. In developed countries, AMD is the most common type of vision loss. According to the article, the recent Rotterdam study concluded that 64% of people over the age of 80 have signs of the disease, while 12% of the age group has AMD that makes them blind. In the UK, AMD is estimated to cost £80 million ($137 million USD) yearly in health care costs. Additionally, individuals with AMD have approximately seven times the health care costs than those with normal vision because they require significant assistance with tasks in their daily lives.

Dr Sarah Ennis and Professor Andrew Lotery, University of Southampton, UK, and colleagues examined a group of patients in the UK with AMD and a group of controls, screening 32 genes previously identified to be potentially involved in the chemical pathways related to AMD. The SERPING1 gene, a part of the so called ‘complement’ system in the eye that assists with clearance of foreign material and infection, was found in a higher proportion of the AMD patients than in the controls.

Subsequently, the study was repeated in a group of patients in the US, with similar results. Further, upon a high-density analysis, five additional variants of the SERPING1 gene were discovered to be associated with AMD.

“Our study shows a strong association between age-related macular degeneration and SERPING1, with supporting evidence from an independent replication and a secondary high-density scan of the gene…genetic variation in SERPING1 may implicate the classic pathway of complement activation in AMD…Our findings add to the growing
understanding of the genetics of age-related macular degeneration, which should ultimately lead to novel treatments for this common and devastating disease,” the authors conclude.

Dr Caroline Klaver, Erasmus Medical Centre, Netherlands, and Professor Arthur Bergen, Netherlands Institute for Neurosciences, Netherlands, contributed an accompanying comment which notes that the next steps in AMD research should attempt to replicate the study’s conclusions in larger groups, as well as in studies that examine functional levels of AMD.

Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study
Sarah Ennis, Catherine Jomary, Robert Mullins, Angela Cree, Xiaoli Chen, Alex MacLeod, Stephen Jones, Andrew Collins, Edwin Stone, Andrew Lotery
Lancet Online October 7, 2008
DOI: 10.1016/S0140-6736(08)61348-3
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Written by Anna Sophia McKenney